CDKL5 Variant
Variant ID: cm143
Systematic name: c.510_511dup
Protein name: p.Tyr171Cysfs*58
Alternate name(s): p.Y171Cfs*58
Mutation type: frameshift insertion and/or deletion
Domain: TEY phosphorylation site
Pathogenicity class: pathogenic variant
dbSNP ID:
First reference: Maortua, H., Martinez-Bouzas, C., Calvo, M.-T., Domingo, M.-R., Ramos, F., Garcia-Ribes, A., Martinez, M.-J., Lopez-Ariztegui, M.-A., Puente, N., Rubio, I., Tejada, M.-I. (2012) CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain. BMC Medical Genetics 13:68. Pubmed ID: 22867051
Comments:
Variant last updated on: 2018-06-05 14:40:30
Matching entries in the proband database
cDNA name | Protein name | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|
c.510_511dup | p.Tyr171Cysfs*58 | Rett syndrome - early-onset seizures | Female | 22867051, Maortua et al (2012) | cp300 |
Displaying a total number of 1 proband entries matching this variant.